New specialty added for the first time in 15 years
For the first time in 15 years, a new medical field has been added to the list of Australian specialties: genetic pathology. It has become…
Tag: Genetics
Eight children born after ‘three-parent IVF’ without signs of mitochondrial disease: landmark study
A world-leading study of ‘three-parent IVF’ babies says none are showing signs of inherited mitochondrial disease in early childhood. The New England Journal of Medicine research, published…
A GP guide to managing gout
Gout is one of the most common inflammatory joint diseases and presents a significant burden for many people in Australia. There are several gaps between…
Mitochondrial disease and the role of the GP
In this explainer video, Dr Christine Wools discusses symptom management in the primary care setting
A GP guide to hypermobile Ehlers-Danlos syndrome
Need to know: The Ehlers-Danlos syndromes (EDS) are a group of 14 heritable connective tissue disorders (HCTDs).1 Hypermobile Ehlers-Danlos syndrome (hEDS), previously known as type…
Landmark gene editing creates a medicine made for just one patient
CRISPR technology has shown strong results treating a baby with a life-threatening liver cell mutation, with scientists saying it is the first documented use of…
Case reports: Mitochondrial disease uncovered
Meet three very different patients and learn how to manage their symptoms based on the patient care standards
‘Don’t be scared to treat mitochondrial disease’
First Australian consensus statement for managing complex group of genetic disorders
A GP guide to newborn bloodspot screening
Need to know: Newborn bloodspot screening is a funded program offered to all Australian babies that aims to save brains and lives. Which conditions will…
Parenthood and the three-gene screen
Reproductive genetic carrier screening (RGCS) aims to identify couples of reproductive age who have a high chance of having children with severe or life-threatening inherited…
